Temat: "Chromosome Aberrations" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: High incidences of chromosomal aberrations and Y chromosome micro-deletions as prominent causes for recurrent pregnancy losses in highly ethnic and consanguineous population.
Autorzy:: Pandith AA; Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India. .
Manzoor U; Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India.; School of Life and Basic Sciences, Jaipur National University, Jaipur, 302025, India.
Amin I; Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India.; Department of Clinical Biochemistry, University of Kashmir, J&K, India.
Dil-Afroze; Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India.
Ahmad A; Department of Obstetrics and Gynecology, SKIMS, Srinagar, J&K, India.
Rashid M; Department of Obstetrics and Gynecology, SKIMS, Srinagar, J&K, India.
Zargar MH; Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India.
Rah S; Department of Obstetrics and Gynaecology, LD Hospital, Srinagar, J&K, India.
Dar FA; Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India.
Qasim I; Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India.
Sanadhya D; School of Life and Basic Sciences, Jaipur National University, Jaipur, 302025, India.; Pokaż więcej
Źródło:: Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2022 Jun; Vol. 305 (6), pp. 1393-1408. Date of Electronic Publication: 2021 Sep 20.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Abortion, Habitual*/epidemiology
Chromosome Aberrations*
Aneuploidy ; Chromosome Deletion ; Chromosomes, Human, Y ; Consanguinity ; Female ; Humans ; Incidence ; Infertility, Male ; Male ; Pregnancy ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; Translocation, Genetic ; Y Chromosome
SCR Disease Name:: Male sterility due to Y-chromosome deletions

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Skocz do pozycji: 2.

Tytuł:: Short-term molecular consequences of chromosome mis-segregation for genome stability.
Autorzy:: Garribba L; Department of Experimental Oncology at IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.
De Feudis G; Department of Experimental Oncology at IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.
Martis V; Department of Experimental Oncology at IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.
Galli M; IFOM ETS - The AIRC Institute of Molecular Oncology, via Adamello 16, 20139, Milan, Italy.
Dumont M; Institut Curie, PSL Research University, CNRS, UMR144, Paris, France.
Eliezer Y; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Wardenaar R; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, 9713 AV, Groningen, the Netherlands.
Ippolito MR; Department of Experimental Oncology at IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.
Iyer DR; Department of Biochemistry and Molecular Biotechnology, University of Massachusetts Chan Medical School, 364 Plantation Street, Worcester, MA, 01605, USA.
Tijhuis AE; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, 9713 AV, Groningen, the Netherlands.
Spierings DCJ; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, 9713 AV, Groningen, the Netherlands.
Schubert M; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, 9713 AV, Groningen, the Netherlands.
Taglietti S; Department of Experimental Oncology at IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.
Soriani C; Department of Experimental Oncology at IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy.
Gemble S; Institut Curie, PSL Research University, CNRS, UMR144, Paris, France.
Basto R; Institut Curie, PSL Research University, CNRS, UMR144, Paris, France.
Rhind N; Department of Biochemistry and Molecular Biotechnology, University of Massachusetts Chan Medical School, 364 Plantation Street, Worcester, MA, 01605, USA.
Foijer F; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, 9713 AV, Groningen, the Netherlands.
Ben-David U; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Fachinetti D; Institut Curie, PSL Research University, CNRS, UMR144, Paris, France.
Doksani Y; IFOM ETS - The AIRC Institute of Molecular Oncology, via Adamello 16, 20139, Milan, Italy.
Santaguida S; Department of Experimental Oncology at IEO, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy. .; Department of Oncology and Hemato-Oncology, University of Milan, Via Santa Sofia 9/1, 20122, Milan, Italy. .; Pokaż więcej
Źródło:: Nature communications [Nat Commun] 2023 Mar 11; Vol. 14 (1), pp. 1353. Date of Electronic Publication: 2023 Mar 11.
Typ publikacji:: Journal Article
MeSH Terms:: Chromosome Aberrations*
Neoplasms*/genetics
Humans ; Aneuploidy ; Genomic Instability ; Chromosomal Instability ; Karyotype ; Chromosome Segregation

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Skocz do pozycji: 3.

Tytuł:: An update on genomic aberrations in Spitz naevi and tumours.
Autorzy:: Hagstrom M; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Fumero-Velázquez M; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Dhillon S; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Olivares S; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Gerami P; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. Electronic address: .; Pokaż więcej
Źródło:: Pathology [Pathology] 2023 Mar; Vol. 55 (2), pp. 196-205. Date of Electronic Publication: 2022 Dec 21.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Melanoma*/diagnosis
Melanoma*/genetics
Nevus, Epithelioid and Spindle Cell*/diagnosis
Nevus, Epithelioid and Spindle Cell*/genetics
Skin Neoplasms*/diagnosis
Skin Neoplasms*/genetics
Chromosome Aberrations*
Humans ; Genomics ; Protein-Tyrosine Kinases ; Proto-Oncogene Proteins/genetics ; Proto-Oncogene Proteins B-raf

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Szczegóły

Skocz do pozycji: 4.

Tytuł:: Management of copy number variants associated with incomplete penetrance and variable expressivity-Results of a French survey.
Autorzy:: Lejamtel F; Histology, Embryology and Cytogenetics Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.; Obstetrics and Gynecology Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.; Fetal pathology Unit, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.; Pediatric Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
Oheix C; Histology, Embryology and Cytogenetics Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.; Obstetrics and Gynecology Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.; Fetal pathology Unit, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.; Pediatric Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
Morales E; Histology, Embryology and Cytogenetics Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.; Obstetrics and Gynecology Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.; Fetal pathology Unit, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.; Pediatric Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
Martinovic J; Fetal pathology Unit, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
Labrune P; Pediatric Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
Petit FM; Molecular Genetics Unit, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
Receveur A; Histology, Embryology and Cytogenetics Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
Achour-Frydman N; Reproductive Biology Unit CECOS, Paris-Saclay University, Antoine Béclère Hospital, AP-HP, Clamart, France.
Benachi A; Obstetrics and Gynecology Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
Puisney-Dakhli C; Histology, Embryology and Cytogenetics Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
Vivanti AJ; Obstetrics and Gynecology Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.; Pokaż więcej
Źródło:: Clinical genetics [Clin Genet] 2023 Mar; Vol. 103 (3), pp. 335-340. Date of Electronic Publication: 2022 Nov 09.
Typ publikacji:: Journal Article
MeSH Terms:: Chromosome Aberrations*
DNA Copy Number Variations*/genetics
Pregnancy ; Female ; Humans ; Penetrance ; Prenatal Diagnosis/methods ; Genetic Counseling/methods

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Skocz do pozycji: 5.

Tytuł:: Genotoxicity assessment of root extracts of Paeonia lactiflora Pall.
Autorzy:: Bak SM; Genetic & Epigenetic Toxicology Research Group, Korea Institute of Toxicology, Daejeon 34114, the Republic of Korea.
Back SM; Genetic & Epigenetic Toxicology Research Group, Korea Institute of Toxicology, Daejeon 34114, the Republic of Korea.
Kim DY; Genetic & Epigenetic Toxicology Research Group, Korea Institute of Toxicology, Daejeon 34114, the Republic of Korea.
Jeung NY; Genetic & Epigenetic Toxicology Research Group, Korea Institute of Toxicology, Daejeon 34114, the Republic of Korea.
Kim NY; Genetic & Epigenetic Toxicology Research Group, Korea Institute of Toxicology, Daejeon 34114, the Republic of Korea.
Yang JY; Division of Toxicological Research, National Institute of Food and Drug Safety Evaluation, Ministry of Food and Drug Safety, Cheongju 28159, the Republic of Korea.
Han KH; Organ Toxicology Research Group, Korea Institute of Toxicology, Daejeon 34114, the Republic of Korea.
Kim YB; Department of Advanced Toxicology Research, Korea Institute of Toxicology, Daejeon 34114, the Republic of Korea.
Min BS; College of Pharmacy, Daegu Catholic University, Gyeongbuk 38430, the Republic of Korea.
Lee BS; Toxicologic Pathology Research Group, Korea Institute of Toxicology, Daejeon 34114, the Republic of Korea.
Park SH; Genetic & Epigenetic Toxicology Research Group, Korea Institute of Toxicology, Daejeon 34114, the Republic of Korea. Electronic address: .; Pokaż więcej
Źródło:: Mutation research. Genetic toxicology and environmental mutagenesis [Mutat Res Genet Toxicol Environ Mutagen] 2023 Feb-Mar; Vol. 886, pp. 503579. Date of Electronic Publication: 2022 Dec 22.
Typ publikacji:: Journal Article
MeSH Terms:: Chromosome Aberrations*
Paeonia*/toxicity
Plant Extracts*/toxicity
Animals ; Mice ; Rats ; DNA Damage ; Escherichia coli ; Mice, Inbred ICR ; Rats, Sprague-Dawley ; Plant Roots/toxicity ; Salmonella typhimurium

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Skocz do pozycji: 6.

Tytuł:: Linear dose response of acrocentric chromosome associations to gamma irradiation in human lymphocytes.
Autorzy:: Samarth RM; Department of Research, ICMR-Bhopal Memorial Hospital & Research Centre (ICMR-BMHRC), Government of India, Raisen Bypass Road, 462038, Bhopal, India. .
Gandhi P; Department of Research, ICMR-Bhopal Memorial Hospital & Research Centre (ICMR-BMHRC), Government of India, Raisen Bypass Road, 462038, Bhopal, India.
Chaudhury NK; Division of Radiation Biodosimetry, Institute of Nuclear Medicine & Allied Sciences (INMAS), DRDO, 110054, Delhi, India.; Pokaż więcej
Źródło:: Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al] [Strahlenther Onkol] 2023 Feb; Vol. 199 (2), pp. 182-191. Date of Electronic Publication: 2022 Aug 04.
Typ publikacji:: Journal Article
MeSH Terms:: Chromosome Aberrations*
Chromosomes*
Humans ; Dose-Response Relationship, Radiation ; Gamma Rays ; Lymphocytes

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Szczegóły

Skocz do pozycji: 7.

Tytuł:: When a sex chromosome aneuploidy is diagnosed-views from a parent support organisation.
Autorzy:: Fisher J; Antenatal Results and Choices, London, UK.
McInnes-Dean H; Antenatal Results and Choices, London, UK.; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Pokaż więcej
Źródło:: Prenatal diagnosis [Prenat Diagn] 2023 Feb; Vol. 43 (2), pp. 235-239. Date of Electronic Publication: 2022 Aug 19.
Typ publikacji:: Journal Article
MeSH Terms:: Sex Chromosome Aberrations*
Sex Chromosomes*
Humans ; Aneuploidy ; Parents

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Skocz do pozycji: 8.

Tytuł:: Translocations are induced in hematopoietic stem cells after irradiation of fetal mice.
Autorzy:: Hamasaki K; Department of Molecular Biosciences, Radiation Effects Research Foundation, 5-2 Hijiyama-Park, Minami-ku, Hiroshima 732-0815, Japan.
Matsumoto T; Department of Molecular Biosciences, Radiation Effects Research Foundation, 5-2 Hijiyama-Park, Minami-ku, Hiroshima 732-0815, Japan.
Cologne J; Department of Statistics, Radiation Effects Research Foundation, 5-2 Hijiyama-Park, Minami-ku, Hiroshima 732-0815, Japan.
Mukai M; Department of Molecular Biosciences, Radiation Effects Research Foundation, 5-2 Hijiyama-Park, Minami-ku, Hiroshima 732-0815, Japan.
Kodama Y; Department of Molecular Biosciences, Radiation Effects Research Foundation, 5-2 Hijiyama-Park, Minami-ku, Hiroshima 732-0815, Japan.
Noda A; Department of Molecular Biosciences, Radiation Effects Research Foundation, 5-2 Hijiyama-Park, Minami-ku, Hiroshima 732-0815, Japan.
Nakamura N; Department of Molecular Biosciences, Radiation Effects Research Foundation, 5-2 Hijiyama-Park, Minami-ku, Hiroshima 732-0815, Japan.; Pokaż więcej
Źródło:: Journal of radiation research [J Radiat Res] 2023 Jan 20; Vol. 64 (1), pp. 99-104.
Typ publikacji:: Journal Article
MeSH Terms:: Translocation, Genetic*
Chromosome Aberrations*
Pregnancy ; Female ; Rats ; Animals ; In Situ Hybridization, Fluorescence ; Hematopoietic Stem Cells ; Fetus/radiation effects ; Mammals

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Szczegóły

Skocz do pozycji: 9.

Tytuł:: Array study in fetuses with nuchal translucency above the 95th percentile: a 4-year observational single-centre study.
Autorzy:: Coello-Cahuao E; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain.
Sánchez-Durán MÁ; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain.
Calero I; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain.
Higueras MT; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain.
García MA; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain.
Rodó C; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain.
Maiz N; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain. .
Plaja Rustein A; Molecular and Clinical Genetics Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
Castells-Sarret N; Molecular and Clinical Genetics Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
Mediano-Vizuete C; Molecular and Clinical Genetics Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
Carreras E; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Pokaż więcej
Źródło:: Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2023 Jan; Vol. 307 (1), pp. 285-292. Date of Electronic Publication: 2022 Apr 29.
Typ publikacji:: Observational Study; Journal Article
MeSH Terms:: Nuchal Translucency Measurement*/methods
Chromosome Aberrations*
Pregnancy ; Female ; Humans ; Prenatal Diagnosis/methods ; Cohort Studies ; Fetus/diagnostic imaging

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Szczegóły

Skocz do pozycji: 10.

Tytuł:: Preclinical safety evaluation of Lipase OF from Candida cylindracea.
Autorzy:: Matten KJ; Intertek Health Sciences Inc., Mississauga, Ontario, Canada.
Hashikawa S; Tokyo Research Laboratory, Meito Sangyo Co., Ltd., Tokyo, Japan.
Harada K; Tokyo Research Laboratory, Meito Sangyo Co., Ltd., Tokyo, Japan.; Pokaż więcej
Źródło:: Journal of applied toxicology : JAT [J Appl Toxicol] 2023 Apr; Vol. 43 (4), pp. 517-533. Date of Electronic Publication: 2022 Oct 19.
Typ publikacji:: Journal Article
MeSH Terms:: Lipase*
Chromosome Aberrations*
Female ; Rats ; Male ; Humans ; Animals ; No-Observed-Adverse-Effect Level ; Body Weight ; Candida
SCR Organism:: Limtongozyma cylindracea

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Szczegóły

Skocz do pozycji: 11.

Tytuł:: Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Autorzy:: Masson J; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Team Energetic Metabolism and Neuronal Development, Neuromyogene Institute, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.
Pebrel-Richard C; Service de Cytogénétique, CHU Clermont-Ferrand, Clermont-Ferrand, France.
Egloff M; Service de Génétique, CHU de Poitiers, Poitiers, France.
Frétigny M; Service d'hématologie, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.
Beaumont M; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Genetics and NIPT, Laboratoire Eylau-Unilabs, Neuilly-sur-Seine, France.
Uguen K; UMR 1078, GGB, CHU Brest, Inserm, Univ Brest, EFS, Brest, France.; Service de Génétique Médicale, CHRU de Brest, Brest, France.
Rollat-Farnier PA; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Plateforme NGS, Hospices Civils de Lyon, Bron, France.
Diguet F; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
Perthus I; Service de Génétique Médicale, CHU Clermont-Ferrand, Clermont-Ferrand, France.
Le Gudayer G; Service de Génétique, CHU de Poitiers, Poitiers, France.
Haye D; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
Dupeyron MB; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Service de Génétique, CH de Valence, Valence, France.
Putoux A; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
Raskin-Champion F; Service de Gynécologie Médicale et Obstétrique, Groupement Hospitalier Sud, Hospices Civils de Lyon, Pierre-Bénite, France.
Till M; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
Chatron N; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Team Energetic Metabolism and Neuronal Development, Neuromyogene Institute, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.
Doray B; Service de Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Service de Génétique, CHU de la Réunion - Hôpital Félix Guyon, Saint-Denis, France.
Bardel C; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Plateforme NGS, Hospices Civils de Lyon, Bron, France.; ISPB, Université Claude Bernard Lyon 1, Lyon, France.
Vinciguerra C; Service d'hématologie, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.; ISPB, Université Claude Bernard Lyon 1, Lyon, France.
Sanlaville D; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Team Energetic Metabolism and Neuronal Development, Neuromyogene Institute, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.
Schluth-Bolard C; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Team Energetic Metabolism and Neuronal Development, Neuromyogene Institute, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Laboratoires de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Pokaż więcej
Źródło:: Clinical genetics [Clin Genet] 2023 Apr; Vol. 103 (4), pp. 401-412. Date of Electronic Publication: 2023 Jan 19.
Typ publikacji:: Journal Article
MeSH Terms:: Gene Rearrangement*
Chromosome Aberrations*
Male ; Female ; Pregnancy ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Meiosis ; Translocation, Genetic

Czasopismo naukowe

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Szczegóły

Skocz do pozycji: 12.

Tytuł:: A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221).
Autorzy:: Clement A; Clément Laboratory, F-93110 Paris, France.
Dominot T; Department of Cytogenetics, APHP Centre, Université de Paris, Hôpital Cochin, F-75014 Paris, France.
Chammas J; ZTP Laboratory, F-93170 Bobigny, France.
Montagnon M; Clément Laboratory, F-93110 Paris, France.; Department of Cytogenetics, APHP Centre, Université de Paris, Hôpital Cochin, F-75014 Paris, France.
Delcroix M; Department of Genetics, CHI de Poissy St Germain en Laye, F-78300 Poissy, France.
Pfeffer J; ZTP Laboratory, F-93170 Bobigny, France.
Dupont JM; Department of Cytogenetics, APHP Centre, Université de Paris, Hôpital Cochin, F-75014 Paris, France.
Lebbar A; Department of Cytogenetics, APHP Centre, Université de Paris, Hôpital Cochin, F-75014 Paris, France.
Clement P; Clément Laboratory, F-93110 Paris, France.
Vialard F; Department of Genetics, CHI de Poissy St Germain en Laye, F-78300 Poissy, France.; UMR-BREED, INRAE, ENVA, UVSQ, UFR SVS, Montigny le Bretonneux, F-78180 Saint-Quentin, France.; Pokaż więcej
Źródło:: Genes [Genes (Basel)] 2022 Dec 27; Vol. 14 (1). Date of Electronic Publication: 2022 Dec 27.
Typ publikacji:: Case Reports
MeSH Terms:: Semen*
Sex Chromosome Aberrations*
Humans ; Male ; Mosaicism ; Chromosomes, Human, Y/genetics
SCR Disease Name:: Male sterility due to Y-chromosome deletions

Raport

na półce

Szczegóły

Skocz do pozycji: 13.

Tytuł:: Alternative end-joining originates stable chromosome aberrations induced by etoposide during targeted inhibition of DNA-PKcs in ATM-deficient tumor cells.
Autorzy:: de Campos Nebel M; Laboratorio de Mutagénesis, Instituto de Medicina Experimental (IMEX), CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina. .
Palmitelli M; Laboratorio de Mutagénesis, Instituto de Medicina Experimental (IMEX), CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina.
Pérez Maturo J; Programa de Medicina de Precisión Y Genómica Clínica, Facultad de Ciencias Biomédicas,, Instituto de Investigaciones en Medicina Traslacional, Universidad Austral-CONICET, Pilar, Argentina.; Consultorio Y Laboratorio de Neurogenética, Facultad de Medicina, Centro Universitario de Neurología 'José María Ramos Mejía' Y División Neurología, Hospital J.M. Ramos Mejía, Universidad de Buenos Aires, Buenos Aires,, Argentina.
González-Cid M; Laboratorio de Mutagénesis, Instituto de Medicina Experimental (IMEX), CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina.; Pokaż więcej
Źródło:: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology [Chromosome Res] 2022 Dec; Vol. 30 (4), pp. 459-476. Date of Electronic Publication: 2022 May 23.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: DNA Breaks, Double-Stranded*
Chromosome Aberrations*
Humans ; Etoposide/pharmacology ; Cell Line ; DNA Repair ; DNA-Activated Protein Kinase/genetics ; DNA-Activated Protein Kinase/metabolism ; DNA/genetics ; DNA End-Joining Repair ; Ataxia Telangiectasia Mutated Proteins/genetics ; Ataxia Telangiectasia Mutated Proteins/metabolism

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Szczegóły

Skocz do pozycji: 14.

Tytuł:: Reproductive outcomes of infertile couples undergoing assisted reproductive technology who are carriers of chromosomal abnormalities: a retrospective cohort study.
Autorzy:: Cui L; Department of Reproduction and Infertility, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Wang F; Department of Reproduction and Infertility, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Lin Y; Department of Reproduction and Infertility, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Li M; Department of Reproduction and Infertility, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.; Pokaż więcej
Źródło:: Annals of medicine [Ann Med] 2022 Dec; Vol. 54 (1), pp. 2302-2308.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Chromosome Aberrations*
Fertilization in Vitro*/methods
Infertility*/genetics
Infertility*/therapy
Female ; Humans ; Pregnancy ; Pregnancy Outcome/epidemiology ; Reproductive Techniques, Assisted ; Retrospective Studies

Czasopismo naukowe

na półce

Szczegóły

Skocz do pozycji: 15.

Tytuł:: Prenatal diagnosis study using array comparative genomic hybridization for genotype-phenotype correlation in 772 fetuses.
Autorzy:: Costa BC; Department of Pathology, Genetics Service, Faculty of Medicine, University of Porto, Portugal.
Grangeia A; Department of Pathology, Genetics Service, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Service, Centro Hospitalar Universitário de São João, Porto, Portugal; I3S-Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal.
Galvão J; Department of Obstetrics and Gynecology, Centro Hospitalar Vila Nova Gaia/Espinho (CHVNG), Vila Nova de Gaia, Portugal.
Vaz D; Department of Pathology, Genetics Service, Faculty of Medicine, University of Porto, Portugal.
Melo M; Department of Obstetrics and Gynecology, Centro Hospitalar Vila Nova Gaia/Espinho (CHVNG), Vila Nova de Gaia, Portugal.
Carraca T; Department of Obstetrics and Gynecology, Hospital São João, Porto, Portugal.
Ramalho C; I3S-Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal; Department of Obstetrics and Gynecology, Hospital São João, Porto, Portugal; Obstetrics and Gynecology Service, Faculty of Medicine, Porto, Portugal.
Dória S; Department of Pathology, Genetics Service, Faculty of Medicine, University of Porto, Portugal; I3S-Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal. Electronic address: .; Pokaż więcej
Źródło:: Annals of diagnostic pathology [Ann Diagn Pathol] 2022 Dec; Vol. 61, pp. 152059. Date of Electronic Publication: 2022 Oct 28.
Typ publikacji:: Journal Article
MeSH Terms:: DNA Copy Number Variations*
Chromosome Aberrations*
Pregnancy ; Female ; Humans ; Comparative Genomic Hybridization/methods ; Retrospective Studies ; Prenatal Diagnosis/methods ; Fetus/abnormalities ; Genetic Association Studies

Czasopismo naukowe

na półce

Szczegóły

Skocz do pozycji: 16.

Tytuł:: Combined Model-Based Prediction for Non-Invasive Prenatal Screening.
Autorzy:: Yang SY; Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea.
Kang KM; Center for Genome Diagnostics, CHA Biotech Inc., Seoul 06135, Republic of Korea.
Kim SY; CHA Future Medicine Research Institute, CHA Bundang Medical Center, Seongnam 13488, Republic of Korea.
Lim SY; Department of Biomedical Engineering, Hankuk University of Foreign Studies, Yongin 17035, Republic of Korea.
Jang HY; Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea.; Center for Genome Diagnostics, CHA Biotech Inc., Seoul 06135, Republic of Korea.
Hong K; Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul 06135, Republic of Korea.
Cha DH; Center for Genome Diagnostics, CHA Biotech Inc., Seoul 06135, Republic of Korea.; Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul 06135, Republic of Korea.
Shim SH; Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea.; Center for Genome Diagnostics, CHA Biotech Inc., Seoul 06135, Republic of Korea.
Joung JG; Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea.; CHA Future Medicine Research Institute, CHA Bundang Medical Center, Seongnam 13488, Republic of Korea.; Institute for Biomedical Informatics, CHA University School of Medicine, CHA University, Seongnam 13488, Republic of Korea.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2022 Nov 30; Vol. 23 (23). Date of Electronic Publication: 2022 Nov 30.
Typ publikacji:: Journal Article
MeSH Terms:: Prenatal Diagnosis*/methods
Chromosome Aberrations*
Pregnancy ; Female ; Child ; Humans ; Reproducibility of Results ; Maternal Age ; Trisomy ; Aneuploidy

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 17.

Tytuł:: Local maximum synchrosqueezes form scaling-basis chirplet transform.
Autorzy:: Hou Y; State Key Laboratory of Dynamic Testing Technology, North University of China, Taiyuan, China.; School of Information and Communication Engineering, North University of China, Taiyuan, China.
Wang L; State Key Laboratory of Dynamic Testing Technology, North University of China, Taiyuan, China.; School of Information and Communication Engineering, North University of China, Taiyuan, China.
Luo X; State Key Laboratory of Dynamic Testing Technology, North University of China, Taiyuan, China.; School of Information and Communication Engineering, North University of China, Taiyuan, China.
Han X; State Key Laboratory of Dynamic Testing Technology, North University of China, Taiyuan, China.; School of Information and Communication Engineering, North University of China, Taiyuan, China.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2022 Nov 29; Vol. 17 (11), pp. e0278223. Date of Electronic Publication: 2022 Nov 29 (Print Publication: 2022).
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Chromosome Aberrations*
Humans ; Signal-To-Noise Ratio

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 18.

Tytuł:: A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
Autorzy:: Orlando V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Di Tommaso S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Alesi V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Loddo S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Genovese S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Catino G; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Martucci L; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Roberti MC; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Trivisano M; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Dentici ML; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.; Genetics and Rare Disease Research Division, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Specchio N; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Dallapiccola B; Genetics and Rare Disease Research Division, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Ferretti A; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2022 Oct 26; Vol. 23 (21). Date of Electronic Publication: 2022 Oct 26.
Typ publikacji:: Case Reports
MeSH Terms:: Chromosome Aberrations*
Brain Diseases*
Humans ; Karyotyping ; Translocation, Genetic ; Chromosome Inversion ; Karyotype ; Genomics ; NAV1.2 Voltage-Gated Sodium Channel/genetics ; NAV1.1 Voltage-Gated Sodium Channel

Raport

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 19.

Tytuł:: Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease.
Autorzy:: Landis BJ; Division of Pediatric Cardiology, Department of Pediatrics, Riley Hospital for Children Indiana University School of Medicine Indianapolis IN.; Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN.
Helm BM; Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN.
Herrmann JL; Division of Thoracic and Cardiovascular Surgery Indiana University School of Medicine Indianapolis IN.
Hoover MC; Division of Pediatric Cardiology, Department of Pediatrics, Riley Hospital for Children Indiana University School of Medicine Indianapolis IN.
Durbin MD; Division of Neonatal-Perinatal Medicine, Riley Hospital for Children Indiana University School of Medicine Indianapolis IN.
Elmore LR; Department of Pediatrics Indiana University School of Medicine Indianapolis IN.
Huang M; Department of Epidemiology and Biostatistics Indiana University Bloomington School of Public Health Bloomington IN.
Johansen M; Division of Pediatric Cardiology, Department of Pediatrics, Riley Hospital for Children Indiana University School of Medicine Indianapolis IN.
Li M; Department of Epidemiology and Biostatistics Indiana University Bloomington School of Public Health Bloomington IN.
Przybylowski LF; Division of Pediatric Cardiology, Department of Pediatrics, Riley Hospital for Children Indiana University School of Medicine Indianapolis IN.
Geddes GC; Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN.
Ware SM; Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN.; Department of Pediatrics Indiana University School of Medicine Indianapolis IN.; Pokaż więcej
Źródło:: Journal of the American Heart Association [J Am Heart Assoc] 2022 Oct 04; Vol. 11 (19), pp. e026369. Date of Electronic Publication: 2022 Sep 29.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Chromosome Aberrations*
Heart Defects, Congenital*/diagnosis
Heart Defects, Congenital*/genetics
Heart Defects, Congenital*/surgery
Humans ; Infant ; Infant, Newborn ; Microarray Analysis/methods

Czasopismo naukowe

na półce

Szczegóły

Skocz do pozycji: 20.

Tytuł:: The frequency and clinical significance of centromere enumeration probe 17 alterations in human epidermal growth factor receptor 2 immunohistochemistry-equivocal invasive breast cancer.
Autorzy:: Katayama A; Translational Medical Sciences Unit, School of Medicine, University of Nottingham, Nottingham, UK.; Diagnostic Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Starczynski J; Department of Cellular Pathology, University Hospitals Birmingham NHS Foundation Trust, Edgebaston, Birmingham, UK.
Toss MS; Translational Medical Sciences Unit, School of Medicine, University of Nottingham, Nottingham, UK.
Shaaban AM; Department of Cellular Pathology, University Hospitals Birmingham NHS Foundation Trust, Edgebaston, Birmingham, UK.; Institute of Cancer and Genomic Sciences, The University of Birmingham, Edgebaston, Birmingham, UK.
Provenzano E; Department of Histopathology, Cambridge University NHS Foundation Trust, Cambridge, UK.
Quinn CM; Department of Histopathology, St. Vincent's University Hospital, Dublin, and School of Medicine, University College Dublin, Dublin, Ireland.
Callagy G; Discipline of Pathology, School of Medicine, Lambe Institute for Translational Research, NUI, Galway, Ireland.
Purdie CA; Department of Breast Pathology, Ninewells Hospital and Medical School, Dundee, UK.
Millican-Slater R; Department of Histopathology, St James's University Hospital, Leeds, UK.
Purnell D; Histopathology Department, University Hospitals of Leicester, Leicester, UK.
Chagla L; Burney Breast Unit, St Helens and Knowsley Teaching Hospital NHS Trust, Prescot, UK.
Oyama T; Diagnostic Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Pinder SE; Division of Cancer Studies, King's College London, Guy's Hospital, London, UK.
Chan S; Department of Oncology, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Ellis I; Translational Medical Sciences Unit, School of Medicine, University of Nottingham, Nottingham, UK.; Department of Histopathology, Nottingham University Hospitals NHS Trust, Nottingham, City Hospital Nottingham, UK.
Lee AHS; Department of Histopathology, Nottingham University Hospitals NHS Trust, Nottingham, City Hospital Nottingham, UK.
Rakha EA; Translational Medical Sciences Unit, School of Medicine, University of Nottingham, Nottingham, UK.; Department of Histopathology, Nottingham University Hospitals NHS Trust, Nottingham, City Hospital Nottingham, UK.; Pokaż więcej
Źródło:: Histopathology [Histopathology] 2022 Oct; Vol. 81 (4), pp. 511-519. Date of Electronic Publication: 2022 Aug 08.
Typ publikacji:: Journal Article
MeSH Terms:: Breast Neoplasms*/genetics
Breast Neoplasms*/pathology
Chromosome Aberrations*
Centromere ; Chromosomes, Human, Pair 17/genetics ; Female ; Gene Amplification ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence/methods ; Receptor, ErbB-2/analysis

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